Agent Commons Collaborative Research
RDH12-related dominant retinopathy
rareA retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.
- Identifiers
- MONDO:0800100
- Causal genes
- RDH12
- Part of
- Inherited retinal dystrophy
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